Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58596021C= , CM000670.2:g.58596021C= | GRCh38 |
| NC_000008.10:g.59508580C= , CM000670.1:g.59508580C= | GRCh37 |
| NC_000008.9:g.59671134C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003580.4:c.1793-362G= MANE Select | NP_003571.2:n.1793-362G= |
| ENST00000038176.8:c.1793-362G= MANE Select | ENSP00000038176.3:n.1793-362G= |
| NM_001144772.1:c.1886-362G= | NP_001138244.1:n.1886-362G= |
| NM_003580.3:c.1793-362G= | NP_003571.2:n.1793-362G= |
| ENST00000038176.7:c.1793-362G= | ENSP00000038176.3:n.1793-362G= |
| ENST00000427130.6:c.1886-362G= | ENSP00000411012.2:n.1886-362G= |
| ENST00000523106.5:n.457-362G= | |
| ENST00000649465.1:c.*1932-362G= | ENSP00000498107.1:n.*1932-362G= |